Canonical Allele Identifier: CA2664271983

Gene: CAV3

Linked Data

• gnomAD v4: 3-8746062-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746067dup , CM000665.2:g.8746067dup	GRCh38
NC_000003.11:g.8787753dup , CM000665.1:g.8787753dup	GRCh37
NC_000003.10:g.8762753dup	NCBI36
NG_008797.2:g.17258dup , LRG_329:g.17258dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*200dup MANE Select	ENSP00000341940.2:n.*200dup
ENST00000343849.2:c.*200dup	ENSP00000341940.2:n.*200dup
ENST00000397368.2:c.*104dup	ENSP00000380525.2:n.*104dup
ENST00000472766.1:n.155+12077dup
NM_001234.4:c.*104dup	NP_001225.1:n.*104dup
NM_033337.2:c.*200dup , LRG_329t1:c.*200dup	NP_203123.1:n.*200dup
NM_001234.5:c.*104dup	NP_001225.1:n.*104dup
NM_033337.3:c.*200dup MANE Select	NP_203123.1:n.*200dup